Primary Identifier | MGI:88460 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 12834 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable collagen binding activity. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; gut; and reproductive system. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators] |